A8A (p.Ala8Ala) variant of SHANK3 (Q9BYB0)
A8A (p.Ala8Ala) in SHANK3 (Q9BYB0) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
A8A (p.Ala8Ala) variant details
- p.Ala8Ala
- gnomAD 22-50674665-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.453
- CADD 13.80
- Population evidence available
- Structural context available
- Literature evidence available